Canonical Allele Identifier: CA483373325
Gene: B3GLCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.31891742C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317605C>A , CM000675.2:g.31317605C>A GRCh38
NC_000013.10:g.31891742C>A , CM000675.1:g.31891742C>A GRCh37
NC_000013.9:g.30789742C>A NCBI36
NG_011732.1:g.122631C>A
NG_011732.2:g.122631C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343307.5:c.1104C>A MANE Select ENSP00000343002.4:p.Ser368=
ENST00000343307.4:c.1104C>A ENSP00000343002.4:p.Ser368=
NM_194318.3:c.1104C>A NP_919299.3:p.Ser368=
XM_006719768.2:c.1047C>A XP_006719831.1:p.Ser349=
XM_011534936.1:c.1065-6146C>A XP_011533238.1:n.1065-6146C>A
XM_011534937.1:c.984C>A XP_011533239.1:p.Ser328=
XM_011534938.1:c.957C>A XP_011533240.1:p.Ser319=
XR_941500.1:n.1289C>A
XR_941501.1:n.1169C>A
XM_006719768.3:c.1047C>A XP_006719831.1:p.Ser349=
XM_011534938.2:c.957C>A XP_011533240.1:p.Ser319=
XM_017020395.1:c.957C>A XP_016875884.1:p.Ser319=
NM_194318.4:c.1104C>A MANE Select NP_919299.3:p.Ser368=